DISEASES

Disease-gene associations mined from literature

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Human genes for Waardenburg syndrome type 4C

Waardenburg syndrome type 4C [DOID:0110955]

A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13.

Synonyms:  Waardenburg syndrome type 4C,  DOID:0110955,  Waardenburg syndrome type IVC,  Waardenburg syndrome with Hirschsprung disease type 4C,  WS4C ...

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.